Variant report

Variant	rs986788
Chromosome Location	chr2:56676268-56676269
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10174257	0.82[EUR][1000 genomes]
rs10184667	0.84[AMR][1000 genomes]
rs11125631	0.82[EUR][1000 genomes]
rs1157475	0.82[EUR][1000 genomes]
rs11688894	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397156	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1465363	0.84[AMR][1000 genomes]
rs17047946	0.83[EUR][1000 genomes]
rs17047952	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17047955	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17047986	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2081424	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2160707	0.83[EUR][1000 genomes]
rs2193484	0.94[EUR][1000 genomes]
rs2193486	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193487	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2869827	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2869828	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4614971	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72618681	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587750	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7598538	0.83[EUR][1000 genomes]
rs956157	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs986787	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv522944	chr2:56603985-56676997	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874172	chr2:56638856-56811749	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757800	chr2:56659685-56851198	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2759052	chr2:56659685-56851198	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56674400-56676400	Enhancers	Fetal Intestine Small	intestine
2	chr2:56674400-56678200	Enhancers	Fetal Intestine Large	intestine
3	chr2:56674600-56676600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:56675000-56676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:56675000-56676400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:56675000-56677800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:56675000-56677800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:56675200-56677000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:56675200-56678000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:56675400-56676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:56675400-56676600	Enhancers	NHEK	skin
12	chr2:56675400-56676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56675400-56677000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:56675400-56677000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:56675400-56677200	Enhancers	Liver	Liver
16	chr2:56675400-56678200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:56675400-56679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:56675600-56676600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:56675600-56677000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:56675600-56677000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:56675600-56677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:56675600-56677000	Flanking Active TSS	A549	lung
23	chr2:56675800-56676600	Flanking Active TSS	HepG2	liver
24	chr2:56675800-56676800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:56675800-56676800	Weak transcription	Psoas Muscle	Psoas
26	chr2:56675800-56677000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:56675800-56677000	Enhancers	Gastric	stomach
28	chr2:56676000-56676800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:56676000-56676800	Active TSS	Duodenum Mucosa	Duodenum
30	chr2:56676000-56677000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:56676000-56677000	Weak transcription	Stomach Mucosa	stomach
32	chr2:56676000-56682800	Weak transcription	Pancreas	Pancrea
33	chr2:56676200-56676600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:56676200-56676600	Active TSS	Fetal Kidney	kidney
35	chr2:56676200-56676800	Active TSS	Pancreatic Islets	Pancreatic Islet

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